NCT06300567

Assessment of Patients Not Concluded After Neonatal Screening of Cystic Fibrosis.

Assessment of Patients Not Concluded After Neonatal Screening of Cystic Fibrosis, CFTR-RD Misdiagnosis.

• Status: Not Yet Recruiting
• Phase: —
• Study type: Observational
• Enrollment: 400 (estimated)
• Sponsor: Hôpital Necker-Enfants Malades · Academic / Other
• Sex: All
• Age: —
• Healthy volunteers: Not accepted

Summary

Assessment of the outcome of patients not concluded fir cystic fibrosis, either symptomatic patients or asymptomatic children detected by newborn screening for cystic fibrosis. The aim is to identify patients potentially at risk of progressing to the clinical spectrum of cystic fibrosis

Detailed description

Among patients not concluded for the diagnosis of cystic fibrosis, some are carriers of CFTR-RD mutations, therefore at risk of progressing to a symptomatic form, and may already have a subclinical involvement that it is important to identify. Among patients who do not carry the CFTR-RD genotype, other patients may be at risk of developing symptoms, if they are carriers of an undetected variant or wrongly classified as non-pathogenic. It is important to detect them to prevent the onset of symptoms

Conditions

• CFTR-RD

Interventions

Type	Name	Description
OTHER	data collection	collection of data of generated by "real world" follow up

Timeline

• Start date: 2024-05-01
• Primary completion: 2026-05-02
• Completion: 2026-11-02
• First posted: 2024-03-08
• Last updated: 2024-03-12